Table 1.
Twenty-eight novel loci identified in the genome-wide meta-analysis of kidney stone disease
CHR | Position | Lead SNP | EA/NEA | EAF | OR (95% CI) | P | Gene | Replication |
---|---|---|---|---|---|---|---|---|
1 | 150958836 | rs267733 | A/G | 0.845 | 0.92 (0.89–0.95) | 2.07×10−8 | ANXA9 | 5.17×10−3 (rs7551686) |
1 | 186651932 | rs113831804 | A/T | 0.022 | 1.24 (1.16–1.33) | 1.09×10−9 | PACERR | 9.64×10−4 (rs7516899)* |
1 | 205724302 | rs823121 | A/G | 0.438 | 1.07 (1.05–1.09) | 3.48×10−9 | SLC41A1 | 7.56×10−6 (rs41264867)* |
1 | 220082150 | rs884127 | A/G | 0.404 | 0.92 (0.9–0.95) | 8.93×10−12 | SLC30A10 | 3.00×10−4 (rs77145552)* |
3 | 48861058 | rs200495345 | A/AT | 0.943 | 1.3 (1.22–1.39) | 2.67×10−15 | PRKAR2A | 2.09×10−1 (rs3895736) |
3 | 51100168 | rs191107165 | A/G | 0.048 | 0.77 (0.71–0.83) | 6.55×10−11 | DOCK3 | 3.23×10−5 (rs72964039)* |
3 | 52124388 | rs138789058 | T/C | 0.065 | 0.84 (0.79–0.89) | 8.01×10−10 | POC1A | 3.23×10−5 (rs72964039)* |
4 | 3744294 | rs440318 | A/G | 0.547 | 0.94 (0.92–0.96) | 2.68×10−8 | ADRA2C | 1.22×10−3 (rs35867127)* |
4 | 77505067 | rs28454965 | A/G | 0.504 | 0.93 (0.91–0.96) | 1.37×10−9 | SHROOM3 | 2.97×10−4 (rs7664160)* |
4 | 115498457 | rs71606723 | A/T | 0.717 | 0.9 (0.88–0.93) | 3.45×10−16 | UGT8 | 5.13×10−4 (rs9884467)* |
5 | 51165567 | rs55672774 | T/C | 0.362 | 1.08 (1.05–1.1) | 9.31×10−11 | ISL1 | 6.00×10−5 (rs184643180)* |
6 | 32107851 | rs3134962 | A/G | 0.155 | 0.9 (0.87–0.93) | 1.51×10−11 | PRRT1 | 9.37×10−8 (rs4947328)* |
6 | 43804571 | rs729761 | T/G | 0.296 | 1.08 (1.06–1.11) | 1.79×10−10 | VEGFA | 1.25×10−4 (rs137924211)* |
6 | 50786008 | rs2206271 | A/T | 0.318 | 1.08 (1.05–1.11) | 9.70×10−11 | TFAP2B | 1.08×10−5 (rs11961359)* |
6 | 101161812 | rs1039031 | A/G | 0.494 | 1.07 (1.04–1.09) | 5.98×10−9 | ASCC3 | 1.09×10−3 (rs12210312)* |
7 | 142605221 | rs4252512 | T/C | 0.985 | 0.78 (0.71–0.85) | 1.88×10−8 | TRPV5 | 1.05×10−2 (rs11520897) |
9 | 71172306 | rs12376362 | A/C | 0.823 | 1.09 (1.06–1.12) | 8.00×10−9 | TMEM252 | 4.22×10−3 (rs71503670) |
9 | 97585477 | rs150891531 | T/C | 0.086 | 0.88 (0.84–0.91) | 8.73×10−10 | AOPEP | 7.05×10−7 (rs10993151)* |
10 | 9280394 | rs17486892 | T/C | 0.773 | 1.08 (1.05–1.11) | 1.90×10−8 | TCEB1P3 | 2.08×10−4 (rs1243417)* |
10 | 90142203 | rs11202736 | A/T | 0.680 | 0.93 (0.91–0.95) | 2.47×10−9 | RNLS | 1.90×10−5 (rs11203100)* |
13 | 96175396 | rs57719175 | A/G | 0.400 | 0.93 (0.91–0.95) | 2.05×10−10 | CLDN10 | 4.58×10−4 (rs61152555)* |
15 | 48500263 | rs34819316 | A/G | 0.005 | 0.54 (0.43–0.67) | 4.59×10−8 | SLC12A1 | 2.52×10−4 (rs117970606)* |
15 | 85719783 | rs10852147 | T/G | 0.319 | 1.07 (1.04–1.09) | 4.35×10−8 | PDE8A | 4.69×10−3 (rs4887181) |
16 | 88549264 | rs55637647 | C/G | 0.650 | 0.93 (0.91–0.95) | 6.50×10−10 | ZFPM1 | 3.68×10−7 (rs8054971)* |
17 | 44025888 | rs242559 | A/C | 0.808 | 0.92 (0.89–0.94) | 4.22×10−9 | MAPT | 2.11×10−4 (rs197923)* |
19 | 4335513 | rs58169740 | T/G | 0.683 | 1.07 (1.05–1.1) | 6.74×10−9 | STAP2 | 3.55×10−4 (rs58659609)* |
19 | 46181392 | rs1800437 | C/G | 0.227 | 0.92 (0.9–0.95) | 1.02×10−9 | GIPR | 5.72×10−5 (rs187967034)* |
19 | 53357172 | rs7259073 | T/C | 0.916 | 1.13 (1.08–1.18) | 3.02×10−8 | ZNF468 | 1.09×10−3 (rs11667654)* |
The lead SNP is the variant with the smallest P value within each locus. The gene is the nearby protein-coding gene to the lead SNP.
EA effect allele, NEA non-effect allele, EAF frequency of the effect allele, OR Odds ratio, CI confidence interval.
*suggests the variant with the smallest P value at each novel locus in Japanese population passed the significant threshold (0.05/28).